Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

Sinclair, A. H., Berta, P., Palmer, M. S., Hawkins, J. R., Griffiths, B. L., Smith, M. J., Foster, J. W., Frischauf, A.-M., Lovell-Badge, R., & Goodfellow, P. N. (1990) · Nature · doi:10.1038/346240a0 · Cited by 3,236

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II.

Tanner, J. M., Whitehouse, R. H., & Takaishi, M. (1966) · Archives of Disease in Childhood · doi:10.1136/adc.41.220.613 · Cited by 2,553

Human Genetics. Problems and Approaches.

(1980) · Annals of Internal Medicine · doi:10.7326/0003-4819-93-1-163_3 · Cited by 991

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development.

Prader, A., Largo, R. H., Molinari, L., & Issler, C. (1989) · PubMed · Cited by 677

Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions

Boué, J., Boué, A., & Lazar, P. (1975) · Teratology · doi:10.1002/tera.1420120103 · Cited by 661

The Skin

Malaparte, C. (1988) · Cited by 601

NCHS growth curves for children birth-18 years. United States.

Hamill, P. V. V., Drizd, T. A., Johnson, C. L., Reed, R. B., & Roche, A. F. (1977) · PubMed · Cited by 582

The anatomy and histology of XO human embryos and fetuses

Singh, R. P., & Carr, D. H. (1966) · The Anatomical Record · doi:10.1002/ar.1091550309 · Cited by 450

Congenital anomalies in the newborninfant, including minor variations

Marden, P. M., Smith, D. W., & McDonald, M. J. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80188-8 · Cited by 422

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY

Jäger, R. J., Anvret, M., Hall, K., & Scherer, G. (1990) · Nature · doi:10.1038/348452a0 · Cited by 408

The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

Hook, E. B., & Warburton, D. (1983) · Human Genetics · doi:10.1007/bf00289473 · Cited by 403

Fetal Cystic Hygroma: Cause and Natural History

Chervenak, F. A., Isaacson, G., Blakemore, K. J., Breg, W. R., Hobbins, J. C., Berkowitz, R. L., Tortora, M., Mayden, K., & Mahoney, M. J. (1983) · New England Journal of Medicine · doi:10.1056/nejm198310063091403 · Cited by 395

Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome

Fisher, E. M. C., Beer-Romero, P., Brown, L. G., Ridley, A., McNeil, J. A., Lawrence, J. B., Willard, H. F., Bieber, F. R., & Page, D. C. (1990) · Cell · doi:10.1016/0092-8674(90)90416-c · Cited by 393

Role of neural crest in congenital heart disease.

Kirby, M. L., & Waldo, K. L. (1990) · Circulation · doi:10.1161/01.cir.82.2.332 · Cited by 382

The psychological impact of infertility: a comparison with patients with other medical conditions.

Domar, A. D., Zuttermeister, P. C., & Friedman, R. B. (1993) · PubMed · Cited by 355

Noonan syndrome.

Allanson, J. E. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.1.9 · Cited by 319

Down syndrome—a disruption of homeostasis

Shapiro, B. L., Hermann, J., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320140206 · Cited by 282

The critical region on the human Xq

Therman, E., Laxova, R., & Susman, B. (1990) · Human Genetics · doi:10.1007/bf00194216 · Cited by 266

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

Hawkins, J. R., Taylor, A., Berta, P., Levilliers, J., Van der Auwera, B., & Goodfellow, P. N. (1992) · Human Genetics · doi:10.1007/bf00215684 · Cited by 252

Edinburgh study of growth and development of children with sex chromosome abnormalities. III.

Ratcliffe, S. G., Tierney, I., Nshaho, J., et al. (1979) · PubMed · Cited by 209

Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome

Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., & Page, D. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198707163170301 · Cited by 204

X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome

MURPHY, D. (1993) · The Lancet · doi:10.1016/0140-6736(93)92184-u · Cited by 195

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

Curry, C. J. R., Magenis, R. E., Brown, M., Lanman, J. T., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E. A., & Shapiro, L. T. (1984) · New England Journal of Medicine · doi:10.1056/nejm198410183111603 · Cited by 190

The XO syndrome: A study of the differentiated phenotype in 25 patients

Lemli, L., & Smith, D. W. (1963) · The Journal of Pediatrics · doi:10.1016/s0022-3476(63)80368-6 · Cited by 183

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

McElreavy, K., Vilain, E., Abbas, N., Costa, J. M., Souleyreau, N., Kucheria, K., Boucekkine, C., Thibaud, E., Brauner, R., & Flamant, F. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.22.11016 · Cited by 182

Congenital anomalies in the newborn infant, including minor variations

M., M. P., W., S. D., & J., M. M. (1964) · Nursing Research · doi:10.1097/00006199-196413040-00060 · Cited by 177

The Psychoeducational Characteristics of Children with Turner Syndrome

Rovet, J. F. (1993) · Journal of Learning Disabilities · doi:10.1177/002221949302600506 · Cited by 171

Growth in children with 45,Xo Turner's syndrome

Brook, C. G. D., Murset, G., Zachmann, M., & Prader, A. (1974) · Archives of Disease in Childhood · doi:10.1136/adc.49.10.789 · Cited by 167

Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?

Clark, E. B. (1984) · Teratology · doi:10.1002/tera.1420290305 · Cited by 160

Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women

Burgoyne, P. S., & Baker, T. G. (1985) · Reproduction · doi:10.1530/jrf.0.0750633 · Cited by 157

Growth hormone secretory dynamics in Turner syndrome

Ross, J. L., Long, L. M., Loriaux, D. L., & Cutler, G. B. (1985) · The Journal of Pediatrics · doi:10.1016/s0022-3476(85)80287-0 · Cited by 156

A familial mutation in the testis-determining gene SRY shared by both sexes

J�ger, R., Harley, V. R., Pfeiffer, R., Goodfellow, P., & Scherer, G. (1992) · Human Genetics · doi:10.1007/bf00220457 · Cited by 156

X-Autosome translocations: Cytogenetic characteristics and their consequences

Mattéi, M., Mattéi, J. F., Aymé, S., & Giraud, F. (1982) · Human Genetics · doi:10.1007/bf00276593 · Cited by 154

Cytogenetic and molecular analysis of sex-chromosome monosomy.

Hassold, T. J., Benham, F., & Leppert, M. (1988) · PubMed · Cited by 152

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

Hawkins, J. R., Taylor, A., Goodfellow, P. N., Migeon, C. J., Smith, K. D., & Berkovitz, G. D. (1992) · PubMed · Cited by 149

CYTOGENETIC AND CLINICAL FINDINGS IN 48 PATIENTS WITH CONGENITALLY DEFECTIVE OR ABSENT OVARIES

Engel, E., & Forbes, A. P. (1965) · Medicine · doi:10.1097/00005792-196503000-00002 · Cited by 146

Chromosomal and clinical findings in 110 females with Turner syndrome

Palmer, C. G., & Reichmann, A. (1976) · Human Genetics · doi:10.1007/bf00295617 · Cited by 140

Small deletions of the short arm of the Y chromosome in 46,XY females.

Distèche, C. M., Casanova, M., Saal, H. M., Friedman, C. L., Sybert, V. P., Graham, J. M., Thuline, H. C., Page, D. C., & Fellous, M. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.20.7841 · Cited by 139

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Davis, R. M. (1981) · Journal of Medical Genetics · doi:10.1136/jmg.18.3.161 · Cited by 133

X-chromosome inactivation may explain the difference in viability of XO humans and mice

Ashworth, A., Rastan, S., Lovell-Badge, R. H., & Kay, G. F. (1991) · Nature · doi:10.1038/351406a0 · Cited by 130

ABNORMALITIES OF SEX CHROMOSOME CONSTITUTION IN NEWBORN BABIES

Maclean, N., Harnden, D. G., & Brown, W. M. C. (1961) · The Lancet · doi:10.1016/s0140-6736(61)92486-2 · Cited by 126

BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

Latt, S. A., Willard, H. F., & Gerald, P. S. (1976) · Chromosoma · doi:10.1007/bf00292912 · Cited by 124

The occurrence of sex chromatin in early human and macaque embryos.

Park, W. W. (1957) · Europe PMC (PubMed Central) · Cited by 123

Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner's syndrome.

Weiss, L. (1971) · Journal of Medical Genetics · doi:10.1136/jmg.8.4.540 · Cited by 117

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

Tharapel, A. T., Anderson, K. P., Simpson, J. L., Martens, P. R., Wilroy, R. S., Llerena, J. C., & Schwartz, C. E. (1993) · PubMed · Cited by 116

Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival

Speed, R. M. (1986) · Chromosoma · doi:10.1007/bf00286989 · Cited by 116

Somatomedin-C Levels in Children and Adolescents with Gonadal Dysgenesis: Differences from Age-Matched Normal Females and Effect of Chronic Estrogen Replacement Therapy*

Cuttler, L., Vliet, G. V., Conte, F. A., Kaplan, S. L., & Grumbach, M. M. (1985) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-60-6-1087 · Cited by 114

Meiotic pairing and gametogenic failure.

Burgoyne, P. S., & Tg, B. (1984) · PubMed · Cited by 113

The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

Therman, E., & Susman, B. (1990) · Human Genetics · doi:10.1007/bf00193192 · Cited by 112

Coarctation of the Aorta in Turner Syndrome: A Pathologic Study of Fetuses With Nuchal Cystic Hygromas, Hydrops Fetalis, and Female Genitalia

Lacro, R. V., Jones, K. L., & Benirschke, K. (1988) · PEDIATRICS · doi:10.1542/peds.81.3.445 · Cited by 108

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

Mathur, A., Stekol, L., Schatz, D., Maclaren, N. K., Scott, M. L., & Lippe, B. M. (1991) · PubMed · Cited by 106

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

Jacobs, P. A., Betts, P. R., Cockwell, A. E., Crolla, J. A., MACKENZIE, M. J., Robinson, D., & Youings, S. A. (1990) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1990.tb00379.x · Cited by 106

Familial Turner Syndrome

Leichtman, D. A., Schmickel, R. D., GELEHRTER, T. D., Judd, W. J., Woodbury, M. C., & Meilinger, K. (1978) · Annals of Internal Medicine · doi:10.7326/0003-4819-89-4-473 · Cited by 104

Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations.

Simpson, J. L. (1975) · PubMed · Cited by 103

Lymphatic malformation in human fetuses

van der Putte, S. C. J. (1977) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/bf00432399 · Cited by 102

Fertility in a male with trisomy 21.

Sheridan, R., Llerena, J. C., Matkins, S., Debenham, P. G., Cawood, A. H., & Bobrow, M. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.5.294 · Cited by 102

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

Ogata, T., & Matsuo, N. (1993) · Human Genetics · doi:10.1007/bf00205079 · Cited by 101

Developmental disorders of the lymphatic system.

Greenlee, R. T., Hoyme, H. E., Witte, M., Crowe, P., & Witte, C. (1993) · PubMed · Cited by 93

Clinical and Cytogenetical Studies in Female Gonadal Dysgenesis and Their Bearing on the Cause of Turner’s Syndrome

Ferguson-Smith, M. A., Alexander, D. S., Bowen, P., Goodman, R. M., Kaufmann, B. N., Jones, H. W., & Heller, R. H. (1964) · Cytogenetic and Genome Research · doi:10.1159/000129827 · Cited by 88

Balanced structural changes involving the human X: Effect on sexual phenotype

Madan, K. (1983) · Human Genetics · doi:10.1007/bf00284652 · Cited by 85

Meiotic chromosome pairing in the normal human female

Wallace, B. M. N., & Hultén, M. A. (1985) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1985.tb01695.x · Cited by 83

Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data.

Simpson, J. L., Christakos, A. C., Horwith, M., & Silverman, F. S. (1971) · PubMed · Cited by 82

HASHIMOTO'S DISEASE IN TURNER'S SYNDROME WITH ISOCHROMOSOME X

Sparkes, R. S. (1963) · The Lancet · doi:10.1016/s0140-6736(63)91719-7 · Cited by 80

Pregnancy and the Turner syndrome.

Cr, K., Magenis, E., & Bennett, S. L. (1978) · PubMed · Cited by 79

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

Leisti, J., Kaback, M. M., & Rimoin, D. L. (1975) · Europe PMC (PubMed Central) · Cited by 75

Mammalian X-chromosome inactivation and the XIST gene

Ballabio, A., & Willard, H. F. (1992) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(05)80155-8 · Cited by 74

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

Bick, D. P., Curry, C. J., McGill, J. R., Schorderet, D. F., Bux, R. C., & Moore, C. M. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320330114 · Cited by 74

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.

Levilliers, J., Quack, B., Weissenbach, J., & Petit, C. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.7.2296 · Cited by 66

An inhertited X‐autosome translocation in man

BUCKTON, K. E., Jacobs, P. A., RAE, L. A., NEWTON, M. S., & Sanger, R. A. (1971) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1956.tb01390.x · Cited by 65

A model for effective pairing and recombination at meiosis based on early replicating sites (R-bands) along chromosomes

Chandley, A. C. (1986) · Human Genetics · doi:10.1007/bf00278817 · Cited by 64

Clinical and cytogenetic aspects of X‐chromosome deletions

Goldman, B., Polani, P. E., Daker, M. G., et al. (1982) · Clinical Genetics · doi:10.1111/j.1399-0004.1982.tb02077.x · Cited by 64

Preferential X-chromosome activity in human female placental tissues

Harrison, K., & Warburton, D. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000132221 · Cited by 64

Reduced fertility in women with X chromosome abnormality

Fitzgerald, P. H., Donald, R. A., & McCormick, P. (1984) · Clinical Genetics · doi:10.1111/j.1399-0004.1984.tb01994.x · Cited by 64

XY Sex reversal associated with a nonsense mutation in SRY

McElreavey, K., Vilain, E. J. N., Boucekkine, C., Vidaud, M., Jaubert, F., Richaud, F., & Fellous, M. (1992) · Genomics · doi:10.1016/0888-7543(92)90164-n · Cited by 63

Gonadal dysgenesis in phenotypic female subjects

Goldberg, M. B., SCULLY, A. L., Solomon, I. L., & Steinbach, H. L. (1968) · The American Journal of Medicine · doi:10.1016/0002-9343(68)90169-1 · Cited by 61

Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review

Fitch, N., Victor, J. D. S., Richer, C., Pinsky, L., & Sitahal, S. (1982) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(82)90776-1 · Cited by 59

Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis

Miyabara, S., Sugihara, H., Maehara, N., Shouno, H., Tasaki, H., Yoshida, K., Saito, N., Kayama, F., Ibara, S., & Suzumori, K. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320340408 · Cited by 58

Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes

Brook, C. G. D., Gasser, T., WERDER, E. A., Prader, A., & Vanderschueren-Lodewykx, M. A. (1977) · Annals of Human Biology · doi:10.1080/03014467700001911 · Cited by 55

The spectrum of gonadal dysgenesis

Greenblatt, R. B., Byrd, J. R., McDonough, P. G., et al. (1967) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(16)34583-5 · Cited by 55

Turner syndrome resulting from partial deletion of Y chromosome short arm: Localization of male determinants

Magenis, R. E., Tochen, M. L., Holahan, K. P., Carey, T. C., Allen, L., & Brown, M. G. (1984) · The Journal of Pediatrics · doi:10.1016/s0022-3476(84)80077-3 · Cited by 53

Molecular study of 45,X conceptuses: Correlation with clinical findings

Lorda‐Sánchez, I., Binkert, F., Mächler, M., & Schinzel, A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420414 · Cited by 53

Evidence for two active X chromosomes in germ cells of female before meiotic entry

Migeon, B. R., & JELALIAN, K. (1977) · Nature · doi:10.1038/269242a0 · Cited by 51

45, Xo Turner's Syndrome without Evidence of Mosaicism in a Patient with two Pregnancies

Philip, J., & Sele, V. (1976) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016347609156930 · Cited by 50

Developmental and other pathologic changes in syndromes caused by chromosome abnormalities.

Gilbert, E. F., & Jm, O. (1982) · PubMed · Cited by 50

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Meindl, A., Hosenfeld, D., Bruckl, W., Schuffenhauer, S., Jenderny, J., Bacskulin, A., Oppermann, H. C., Swensson, O., Bouloux, P. M., & Meitinger, T. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.838 · Cited by 49

Analysis of the origin of Turner's syndrome using polymorphic DNA probes.

Loughlin, S. A. R., Redha, A. A., McIver, J., BOYD, E., Carothers, A. D., & Connor, J. M. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.3.156 · Cited by 48

Mongolism and sex: a common problem of cell proliferation?

Mittwoch, U. (1972) · Journal of Medical Genetics · doi:10.1136/jmg.9.1.92 · Cited by 44

Fertility in patients with X chromosome deletions

Fryns, J. P., Kleczkowska, A., Petit, P., et al. (1982) · Clinical Genetics · doi:10.1111/j.1399-0004.1982.tb01416.x · Cited by 42

Spontaneous resolution of fetal cystic hygroma and hydrops in Turner syndrome.

Mostello, D., Bofinger, M. K., & Siddiqi, T. A. (1989) · PubMed · Cited by 40

Developmental Approach to the Psychology of Craniofacial Anomalies

Speltz, M. L., Greenberg, M. T., Endriga, M. C., & Galbreath, H. (1994) · The Cleft Palate-Craniofacial Journal · doi:10.1597/1545-1569_1994_031_0061_dattpo_2.3.co_2 · Cited by 39

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Ogata, T., Tyler‐Smith, C., Purvis‐Smith, S., et al. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.11.918 · Cited by 39

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.

Zeng, Y., Ren, Z., Zhang, M. L., Huang, Y., Zeng, F., & Huang, S. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.8.655 · Cited by 38

Pregnancy in the turner syndrome with only 45,X chromosomal constitutions

Wray, H. L., Freeman, M. V. R., & Ming, P. L. (1981) · Fertility and Sterility · doi:10.1016/s0015-0282(16)45491-9 · Cited by 38

Fertility in a 45,X female.

Nakashima, I. I., & Robinson, A. (1971) · PubMed · Cited by 36

[Turner syndrome with fully developed secondary sex characteristics and fertility].

Bahner, F., Schwarz, G. L., Hienz, H. A., & WALTER, K. (1960) · PubMed · Cited by 35

Cytogenetic and Clinical Study on 100 Cases of Primary Amenorrhoea

Kallio, H. (1973) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016347309155306 · Cited by 33

Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

Massa, G., Vanderschueren‐Lodeweyckx, M., & Fryns, J. P. (1992) · European Journal of Pediatrics · doi:10.1007/bf01954124 · Cited by 31

Deletions of Xq and growth deficit: A review

Geerkens, C., Just, W., & Vogel, W. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500202 · Cited by 31

Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome

Just, W., Geerkens, C., Held, K. R., & Vogel, W. (1992) · Human Genetics · doi:10.1007/bf00217131 · Cited by 29

Pregnancy and reproductive function in a patient with non-mosaic Turner syndrome.

Mm, B., Chihal, H. J., & Dickey, R. P. (1985) · PubMed · Cited by 29

Menstrual function in Turner's syndrome.

Groll, M., & Cooper, M. (1976) · PubMed · Cited by 29

45,X Lymphocyte karyotype in a fertile woman

Hj, G., Dk, Q., & Edge, W. E. (1973) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(73)90306-2 · Cited by 28

Lymph vessel defects in patients with ovarian dysgenesis

Vittay, P., Bõsze, P., Gaál, M., & László, J. (1980) · Clinical Genetics · doi:10.1111/j.1399-0004.1980.tb02299.x · Cited by 28

Pregnancy in five women with 45,X/46,XX and 45,X/47,XXX gonadal dysgenesis.

Mh, S. (1978) · PubMed · Cited by 27

Secondary amenorrhea associated with balanced X-autosome translocation.

Sauer, F. C., Rm, G., Reardon, P., & Riddick, D. H. (1977) · PubMed · Cited by 26

Altered brain development in Turner's syndrome: An event‐related potential study

Johnson, R., Rohrbaugh, J., & ROSS, J. L. (1993) · Neurology · doi:10.1212/wnl.43.4.801 · Cited by 25

Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

Kalousek, D. K., Schiffrin, A., Berguer, A.-M., et al. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80208-5 · Cited by 25

9 Psychological correlates of abnormal pubertal development

Ehrhardt, A. Α., & Meyer‐Bahlburg, H. F. L. (1975) · Clinics in Endocrinology and Metabolism · doi:10.1016/s0300-595x(75)80040-5 · Cited by 22

Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts

Verp, M. S., Rosinsky, B. J., Beau, M. M. L., Martin, A. O., Kaplan, R., Wallemark, C. B., Otaño, L., & Simpson, J. L. (1988) · Clinical Genetics · doi:10.1111/j.1399-0004.1988.tb03449.x · Cited by 17

Absence of Turner stigmata in a 46,XYp-female

M�ller, U., Kirkels, V. H. J., & Scheres, J. M. J. C. (1992) · Human Genetics · doi:10.1007/bf00220069 · Cited by 15

A 45, X woman with a 47, XY, G+ son

Lajborek-Czyz, I. (1976) · Clinical Genetics · doi:10.1111/j.1399-0004.1976.tb01555.x · Cited by 15

Paternal X chromosome expression in extraembryonic membranes of XO mice

Frels, W. I., & Chapman, V. M. (1979) · Journal of Experimental Zoology · doi:10.1002/jez.1402100319 · Cited by 11

H‐Y antigen expression in patients with X‐autosomal translocations and gonadal dysgenesis

Haseltine, F. P., Lynch, V. A., Dyke, D. L. V., Breg, W. R., Francke, U., & Opitz, J. M. (1982) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320130203 · Cited by 10

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature

Kaiser, P., Harprecht, W., Steuernagel, P., & Daume, E. (1984) · Clinical Genetics · doi:10.1111/j.1399-0004.1984.tb01084.x · Cited by 9

Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome

Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0558 · Cited by 652

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

Clement-Jones, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.5.695 · Cited by 423

Pregnancy in patients with Turner's syndrome: six new cases and review of literature

Tarani, L., Lampariello, S., Raguso, G., Colloridi, F., Pucarelli, I., Pasquino, A. M., & Bruni, L. A. (1998) · Gynecological Endocrinology · doi:10.3109/09513599809024955 · Cited by 228

Epigenetics in Turner syndrome

Álvarez-Nava, F., & Lanes, R. (2018) · Clinical Epigenetics · doi:10.1186/s13148-018-0477-0 · Cited by 79

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children

Bilge, I., Kayserili, H., Emre, S., Nayir, A., Sirin, A., Tukel, T., Bas, F., Kilic, G., Basaran, S., Gunoz, H., et al. (2000) · Pediatric Nephrology · doi:10.1007/s004670000315 · Cited by 77